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Article: Implementing a clinical scientist-led screening clinic for hypertrophic and dilated cardiomyopathies.

Draper, Jane / Bastiaenen, Rachel / Carr-White, Gerald / Bueser, Teofila / Webb, Jessica / Evans, Colin / Nuthoo, Soraya / Sheikh, Nabeel

Echo research and practice

2024 Volume 11, Issue 1, Page(s) 10

Abstract: Background: The burden of screening for inherited cardiac conditions on health services grows ever larger, with each new diagnosis necessitating screening of additional family members. Screening these usually asymptomatic, low-risk individuals is ... ...

Abstract	Background: The burden of screening for inherited cardiac conditions on health services grows ever larger, with each new diagnosis necessitating screening of additional family members. Screening these usually asymptomatic, low-risk individuals is currently performed by consultant cardiologists, consuming vital clinic resources that could otherwise be diverted to sicker patients requiring specialist consultant input. Clinical scientists now constitute a highly skilled and often underutilised group of individuals with training in areas such as clinical evaluation, 12-lead electrocardiography (ECG) interpretation, and echocardiography. These skills place them in a unique position to offer a full screening evaluation in a single consultation. The aim of this study was to implement and evaluate a novel clinical scientist-led screening clinic for first-degree relatives of patients with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). The clinical scientist-led screening clinic was established at a London tertiary centre to allow review of asymptomatic, first-degree relatives of patients with a confirmed diagnosis of HCM or DCM, independent of a cardiology consultant. Patients were evaluated with history, examination, ECG, and echocardiography, with further investigations if deemed necessary. A retrospective review was performed of the first 200 patients seen in the clinic. Results: Of the 200 individuals reviewed between September 2019 and July 2022, 99 had a proband with HCM and 101 a proband with DCM. Overall, 169 individuals (85%) revealed normal screenings and were discharged. Thirty-one individuals (15.5%), all asymptomatic, revealed ECG changes and/or significant echocardiographic findings. Of these, 21 individuals (10.5% of the total cohort) were subsequently diagnosed with a cardiomyopathy or early phenotypic changes consistent with a cardiomyopathy (11 with HCM and 10 with DCM). These individuals were referred on to an inherited cardiac conditions consultant clinic for regular follow-up. Overall, 179 consultant clinic appointments were saved which could instead be allocated to patients requiring specialist consultant input. Conclusions: This is the first description of a clinical scientist-led screening clinic for first-degree relatives of patients with HCM and DCM. The findings demonstrate that implementation of such a service into routine clinical practice is feasible, effective, safe, and can free up capacity in consultant clinics for patients requiring specialist input.
Language	English
Publishing date	2024-04-17
Publishing country	England
Document type	Journal Article
ZDB-ID	2777997-X
ISSN	2055-0464
ISSN	2055-0464
DOI	10.1186/s44156-024-00045-0
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Article ; Online: Wonder women: wondering where the women in cardiovascular trials are?

Cook, Samantha / Matthews, Stacey / Murray, Sarah / Bueser, Teofila / Wynne, Rochelle / Clayton, Tim / Sanders, Julie

European journal of cardiovascular nursing

2021 Volume 20, Issue 7, Page(s) 629–630

MeSH term(s)	Cardiovascular Diseases ; Clinical Trials as Topic ; Female ; Humans
Language	English
Publishing date	2021-08-20
Publishing country	England
Document type	Editorial
ZDB-ID	2151245-0
ISSN	1873-1953 ; 1474-5151
ISSN (online)	1873-1953
ISSN	1474-5151
DOI	10.1093/eurjcn/zvab074
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Article ; Online: Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy.

Bourke, John P / Bueser, Teofila / Quinlivan, Rosaline

The Cochrane database of systematic reviews

2018 Volume 10, Page(s) CD009068

Abstract: Background: The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XLDCM). In recent years, co-ordinated multidisciplinary management for these diseases has improved the ... ...

Abstract	Background: The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XLDCM). In recent years, co-ordinated multidisciplinary management for these diseases has improved the quality of care, with early corticosteroid use prolonging independent ambulation, and the routine use of non-invasive ventilation signficantly increasing survival. The next target to improve outcomes is optimising treatments to delay the onset or slow the progression of cardiac involvement and so prolong survival further. Objectives: To assess the effects of interventions for preventing or treating cardiac involvement in DMD, BMD, and XLDCM, using measures of change in cardiac function over six months. Search methods: On 16 October 2017 we searched the Cochrane Neuromuscular Specialised Register, CENTRAL, MEDLINE and Embase, and on 12 December 2017, we searched two clinical trials registries. We also searched conference proceedings and bibliographies. Selection criteria: We considered only randomised controlled trials (RCTs), quasi-RCTs and randomised cross-over trials for inclusion. In the Discussion, we reviewed open studies, longitudinal observational studies and individual case reports but only discussed studies that adequately described the diagnosis, intervention, pretreatment, and post-treatment states and in which follow-up lasted for at least six months. Data collection and analysis: Two authors independently reviewed the titles and abstracts identified from the search and performed data extraction. All three authors assessed risk of bias independently, compared results, and decided which trials met the inclusion criteria. They assessed the certainty of evidence using GRADE criteria. Main results: We included five studies (N = 205) in the review; four studies included participants with DMD only, and one study included participants with DMD or BMD. All studied different interventions, and meta-analysis was not possible. We found no studies for XLDCM. None of the trials reported cardiac function as improved or stable cardiac versus deteriorated.The randomised first part of a two-part study of perindopril (N = 28) versus placebo (N = 27) in boys with DMD with normal heart function at baseline showed no difference in the number of participants with a left ventricular ejection fraction (LVEF%) of less than 45% after three years of therapy (n = 1 in each group; risk ratio (RR) 1.04, 95% confidence interval (CI) 0.07 to 15.77). This result is uncertain because of study limitations, indirectness and imprecision. In a non-randomised follow-up study, after 10 years, more participants who had received placebo from the beginning had reduced LVEF% (less than 45%). Adverse event rates were similar between the placebo and treatment groups (low-certainty evidence).A study comparing treatment with lisinopril versus losartan in 23 boys newly diagnosed with Duchenne cardiomyopathy showed that after 12 months, both were equally effective in preserving or improving LVEF% (lisinopril 54.6% (standard deviation (SD) 5.19), losartan 55.2% (SD 7.19); mean difference (MD) -0.60% CI -6.67 to 5.47: N = 16). The certainty of evidence was very low because of very serious imprecision and study limitations (risk of bias). Two participants in the losartan group were withdrawn due to adverse events: one participant developed an allergic reaction, and a second exceeded the safety standard with a fall in ejection fraction greater than 10%. Authors reported no other adverse events related to the medication (N = 22; very low-certainty evidence).A study comparing idebenone versus placebo in 21 boys with DMD showed little or no difference in mean change in cardiac function between the two groups from baseline to 12 months; for fractional shortening the mean change was 1.4% (SD 4.1) in the idebenone group and 1.6% (SD 2.6) in the placebo group (MD -0.20%, 95% CI -3.07 to 2.67, N = 21), and for ejection fraction the mean change was -1.9% (SD 9.8) in the idebenone group and 0.4% (SD 5.5) in the placebo group (MD -2.30%, 95% CI -9.18 to 4.58, N = 21). The certainty of evidence was very low because of study limitations and very serious imprecision. Reported adverse events were similar between the treatment and placebo groups (low-certainty evidence).A multicentre controlled study added eplerenone or placebo to 42 patients with DMD with early cardiomyopathy but preserved left ventricular function already established on ACEI or ARB therapy. Results showed that eplerenone slowed the rate of decline of magnetic resonance (MR)-assessed left ventricular circumferential strain at 12 months (eplerenone group median 1.0%, interquartile range (IQR) 0.3 to -2.2; placebo group median 2.2%, IQR 1.3 to -3.1%; P = 0.020). The median decline in LVEF over the same period was also less in the eplerenone group (-1.8%, IQR -2.9 to 6.0) than in the placebo group (-3.7%, IQR -10.8 to 1.0; P = 0.032). We downgraded the certainty of evidence to very low for study limitations and serious imprecision. Serious adverse events were reported in two patients given placebo but none in the treatment group (very low-certainty evidence).A randomised placebo-controlled study of subcutaneous growth hormone in 16 participants with DMD or BMD showed an increase in left ventricular mass after three months' treatment but no significant improvement in cardiac function. The evidence was of very low certainty due to imprecision, indirectness, and study limitations. There were no clinically significant adverse events (very low-certainty evidence).Some studies were at risk of bias, and all were small. Therefore, although there is some evidence from non-randomised data to support the prophylactic use of perindopril for cardioprotection ahead of detectable cardiomyopathy, and for lisinopril or losartan plus eplerenone once cardiomyopathy is detectable, this must be considered of very low certainty. Findings from non-randomised studies, some of which have been long term, have led to the use of these drugs in daily clinical practice. Authors' conclusions: Based on the available evidence from RCTs, early treatment with ACE inhibitors or ARBs may be comparably beneficial for people with a dystrophinopathy; however, the certainty of evidence is very low. Very low-certainty evidence indicates that adding eplerenone might give additional benefit when early cardiomyopathy is detected. No clinically meaningful effect was seen for growth hormone or idebenone, although the certainty of the evidence is also very low.
MeSH term(s)	Adolescent ; Adult ; Angiotensin Receptor Antagonists/adverse effects ; Angiotensin Receptor Antagonists/therapeutic use ; Angiotensin-Converting Enzyme Inhibitors/adverse effects ; Angiotensin-Converting Enzyme Inhibitors/therapeutic use ; Antihypertensive Agents/therapeutic use ; Cardiomyopathies/drug therapy ; Cardiomyopathies/etiology ; Cardiomyopathies/prevention & control ; Cardiomyopathy, Dilated/complications ; Cardiovascular Agents/therapeutic use ; Child ; Disease Progression ; Eplerenone/adverse effects ; Eplerenone/therapeutic use ; Human Growth Hormone/therapeutic use ; Humans ; Lisinopril/therapeutic use ; Losartan/therapeutic use ; Male ; Muscular Dystrophy, Duchenne/complications ; Non-Randomized Controlled Trials as Topic ; Perindopril/therapeutic use ; Placebos/adverse effects ; Placebos/therapeutic use ; Randomized Controlled Trials as Topic ; Stroke Volume/drug effects ; Ubiquinone/adverse effects ; Ubiquinone/analogs & derivatives ; Ubiquinone/therapeutic use ; Young Adult
Chemical Substances	Angiotensin Receptor Antagonists ; Angiotensin-Converting Enzyme Inhibitors ; Antihypertensive Agents ; Cardiovascular Agents ; Placebos ; Human Growth Hormone (12629-01-5) ; Ubiquinone (1339-63-5) ; Eplerenone (6995V82D0B) ; Lisinopril (E7199S1YWR) ; idebenone (HB6PN45W4J) ; Losartan (JMS50MPO89) ; Perindopril (Y5GMK36KGY)
Language	English
Publishing date	2018-10-16
Publishing country	England
Document type	Journal Article ; Systematic Review
ISSN	1469-493X
ISSN (online)	1469-493X
DOI	10.1002/14651858.CD009068.pub3
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Article ; Online: The Impact of the Covid-19 Pandemic on Recovery from Cardiac Surgery Over Time: Results of the Cardiaccovid Study from three Uk National Lockdowns.

Sanders, Julie / Beaumont, Emma / Dodd, Matthew / Murray, Sarah E / Owens, Gareth / Berry, Alan / Hyde, Edward / Bueser, Teofila / Clayton, Tim / Oo, Aung Ye

European journal of cardiovascular nursing

2023

Abstract: This prospective study (clinicaltrials.gov NCT04366167) explores health-related quality of life (EQ-5D-5L), event-related distress (IES-R) and depression (CES-D) after cardiac surgery during the three UK national COVID-19 lockdowns. Overall, 253 patients ...

Abstract	This prospective study (clinicaltrials.gov NCT04366167) explores health-related quality of life (EQ-5D-5L), event-related distress (IES-R) and depression (CES-D) after cardiac surgery during the three UK national COVID-19 lockdowns. Overall, 253 patients participated (lockdown one n = 196; two n = 45; three n = 12) completing the above-mentioned questionnaires at baseline, one week after discharge and six weeks, six and 12 months after surgery. While EQ-5D-5L values were similar across all cohorts, those having surgery in lockdowns two and three had higher IES-R scores at 1-year and higher IES-R and CES-D baseline scores, respectively. Generally, increased distress, worse depression and poorer HRQoL were observed in women.
Language	English
Publishing date	2023-08-16
Publishing country	England
Document type	Journal Article
ZDB-ID	2151245-0
ISSN	1873-1953 ; 1474-5151
ISSN (online)	1873-1953
ISSN	1474-5151
DOI	10.1093/eurjcn/zvad084
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Article ; Online: Consensus recommendations on holistic care in hereditary ATTR amyloidosis: an international Delphi survey of patient advocates and multidisciplinary healthcare professionals.

Obici, Laura / Callaghan, Rosaline / Ablett, Joanne / Bibiloni, Catilena / Bueser, Teofila / Conceição, Isabel / Dongiglio, Francesca / Farrugia, Agnès / Knebel, Fabian / Lane, Thirusha / Larsson, Lars-Ove / Morier, Agnès / Nicholas, Vincent / Coelho, Teresa

BMJ open

2023 Volume 13, Issue 9, Page(s) e073130

Abstract: Background: Hereditary transthyretin-mediated amyloidosis is a rare, progressive and potentially life-limiting multisystem disease, affecting every aspect of a patient's life.: Objectives: This online international Delphi survey aimed to evolve ... ...

Abstract	Background: Hereditary transthyretin-mediated amyloidosis is a rare, progressive and potentially life-limiting multisystem disease, affecting every aspect of a patient's life. Objectives: This online international Delphi survey aimed to evolve clinical-patient-led practical guidance, to inspire and encourage a holistic approach to care that is managed in specialist settings by multidisciplinary teams and supported by allied healthcare professionals (HCPs) and patient advocacy groups (PAGs). Design: A 14-member joint patient advocate-HCP primary panel was convened including representation from PAGs and key clinical specialties (neurology, cardiology, internal medicine, physiotherapy, clinical psychology, dietetics and specialist nursing). Guidance evolved on the care provision needed to support seven core goals: early diagnosis and treatment; disease monitoring and organisation of care; maintenance of physical and mental health; family-centred care and caregiver support; patient-doctor dialogue; access to social support and social networking. Participants: From June to October 2022, 252 HCPs and 51 PAG representatives from 27 countries were invited to participate in a Delphi survey. Of the 122 respondents who answered at least one survey question, most were HCPs (100, 82%) from specialist centres; the remainder were PAG representatives (22, 18%). Main outcome measure: Both level of agreement and feasibility in practice of each recommendation was tested by two anonymised online Delphi voting rounds. Results: Based on an a priori threshold for consensus of ≥75% agreement, the clinical-patient community endorsed all but one recommendation. However, only 17/49 (35%) recommendations were identified by most HCPs as a core part of routine care; the remainder (32/49 (65%)) were identified as part of core care by <50% of HCPs respondents, or as largely achievable by 30%-45% of HCPs. By comparison, PAGs recorded lower implementation levels. Conclusions: Further consideration is needed on how to evolve multidisciplinary services (supported by allied HCPs and PAGs) to address the complex needs of those affected by this disease.
MeSH term(s)	Humans ; Patient Advocacy ; Consensus ; Amyloid Neuropathies, Familial ; Internal Medicine ; Delivery of Health Care
Language	English
Publishing date	2023-09-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2599832-8
ISSN	2044-6055 ; 2044-6055
ISSN (online)	2044-6055
ISSN	2044-6055
DOI	10.1136/bmjopen-2023-073130
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Article ; Online: The impact of the COVID-19 pandemic on recovery from cardiac surgery: 1-year outcomes.

Sanders, Julie / Bueser, Teofila / Beaumont, Emma / Dodd, Matthew / Murray, Sarah E / Owens, Gareth / Berry, Alan / Hyde, Edward / Clayton, Tim / Oo, Aung Ye

European journal of cardiovascular nursing

2022 Volume 22, Issue 5, Page(s) 516–528

Abstract: Aims: The outbreak of COVID-19 was potentially stressful for everyone and possibly heightened in those having surgery. We sought to explore the impact of the pandemic on recovery from cardiac surgery.: Methods and results: A prospective observational ...

Abstract	Aims: The outbreak of COVID-19 was potentially stressful for everyone and possibly heightened in those having surgery. We sought to explore the impact of the pandemic on recovery from cardiac surgery. Methods and results: A prospective observational study of 196 patients who were ≥18years old undergoing cardiac surgery between March 23 and July 4, 2020 (UK lockdown) was conducted. Those too unwell or unable to give consent/complete the questionnaires were excluded. Participants completed (on paper or electronically) the impact of event [Impact of Events Scale-revised (IES-R)] (distress related to COVID-19), depression [Centre for Epidemiological Studies Depression Scale (CES-D)], and EQ-5D-5L [(quality of life, health-related quality of life (HRQoL)] questionnaires at baseline, 1 week after hospital discharge, and 6 weeks, 6 months and 1 year post-surgery. Questionnaire completion was >75.0% at all timepoints, except at 1 week (67.3%). Most participants were male [147 (75.0%)], white British [156 (79.6%)] with an average age 63.4years. No patients had COVID-19. IES-R sand CES-D were above average at baseline (indicating higher levels of anxiety and depression) decreasing over time. HRQoL pre-surgery was high, reducing at 1 week but increasing to almost pre-operative levels at 6 weeks and exceeding pre-operative levels at 6 months and 1 year. IES-R and CES-D scores were consistently higher in women and younger patients with women also having poorer HRQoL up to 1-year after surgery. Conclusions: High levels of distress were observed in patients undergoing cardiac surgery during the COVID-19 pandemic with women and younger participants particularly affected. Psychological support pre- and post-operatively in further crises or traumatic times should be considered to aid recovery. Registration: Clinicaltrials.gov ID:NCT04366167.
MeSH term(s)	Humans ; Male ; Female ; Middle Aged ; COVID-19/epidemiology ; Pandemics ; Quality of Life ; Communicable Disease Control ; Cardiac Surgical Procedures ; Depression/epidemiology ; Depression/psychology
Language	English
Publishing date	2022-09-09
Publishing country	England
Document type	Observational Study ; Journal Article
ZDB-ID	2151245-0
ISSN	1873-1953 ; 1474-5151
ISSN (online)	1873-1953
ISSN	1474-5151
DOI	10.1093/eurjcn/zvac083
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Article ; Online: Extensive endoscopic sinus surgery: does this reduce the revision rate for nasal polyposis?

Masterson, Liam / Tanweer, Faiz / Bueser, Teofila / Leong, Paul

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

2010 Volume 267, Issue 10, Page(s) 1557–1561

Abstract: Nasal polyps treated either medically or surgically have a high recurrence rate. It is hypothesised that the performance of an extensive endoscopic sinus surgery (EESS), involving complete removal of nasal polyps along with full ethmoid clearance, will ... ...

Abstract	Nasal polyps treated either medically or surgically have a high recurrence rate. It is hypothesised that the performance of an extensive endoscopic sinus surgery (EESS), involving complete removal of nasal polyps along with full ethmoid clearance, will decrease the recurrence rate and therefore be an advantage to the patient. This study is a retrospective review of 149 patients who underwent EESS in a district general hospital. Surgical revision rates and perioperative complication data were recorded. A comparison was made with patients enlisted with the UK National Comparative Audit who underwent polyp disease removal limited to the anterior ethmoid cavity. A further measure regarding quality of life was derived from sinonasal outcome test 22 (SNOT-22). At 36 months after surgery, five patients from the extensive surgery group had undergone a revision procedure, which was significantly less than the National Audit figure (4.0 vs. 12.3% P = <0.006). The perioperative adverse complication rate was similar (7.4 vs. 6.6% P = <0.774). There is a large improvement in SNOT-22 scores from the pre-operative period (mean 39) to the post-operative period (mean 8). This study provides some evidence that extensive sinus surgery performed by an experienced rhinologist can lead to a lower revision rate without compromising patient safety. If a further prospective study confirms this hypothesis then this may provide a basis for change.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Cohort Studies ; Endoscopy ; Ethmoid Sinus/surgery ; Female ; Humans ; Male ; Middle Aged ; Nasal Polyps/complications ; Nasal Polyps/pathology ; Nasal Polyps/surgery ; Quality of Life ; Recurrence ; Reoperation ; Retrospective Studies ; Treatment Outcome ; Young Adult
Language	English
Publishing date	2010-10
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1017359-6
ISSN	1434-4726 ; 0937-4477
ISSN (online)	1434-4726
ISSN	0937-4477
DOI	10.1007/s00405-010-1233-z
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Article ; Online: Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Thomson, Kate L / Ormondroyd, Elizabeth / Harper, Andrew R / Dent, Tim / McGuire, Karen / Baksi, John / Blair, Edward / Brennan, Paul / Buchan, Rachel / Bueser, Teofila / Campbell, Carolyn / Carr-White, Gerald / Cook, Stuart / Daniels, Matthew / Deevi, Sri V V / Goodship, Judith / Hayesmoore, Jesse B G / Henderson, Alex / Lamb, Teresa /

Prasad, Sanjay / Rayner-Matthews, Paula / Robert, Leema / Sneddon, Linda / Stark, Hannah / Walsh, Roddy / Ware, James S / Farrall, Martin / Watkins, Hugh C

Genetics in medicine : official journal of the American College of Medical Genetics

2018 Volume 21, Issue 7, Page(s) 1576–1584

Abstract: Purpose: Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack of evidence supporting the gene-disease relationship can hinder interpretation. We explored the utility of testing ...

Abstract	Purpose: Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack of evidence supporting the gene-disease relationship can hinder interpretation. We explored the utility of testing 51 additional genes for hypertrophic cardiomyopathy (HCM), one of the most commonly tested Mendelian disorders. Methods: Using genome sequencing data from 240 sarcomere gene negative HCM cases and 6229 controls, we undertook case-control and individual variant analyses to assess 51 genes that have been proposed for HCM testing. Results: We found no evidence to suggest that rare variants in these genes are prevalent causes of HCM. One variant, in a single case, was categorized as likely to be pathogenic. Over 99% of variants were classified as a variant of uncertain significance (VUS) and 54% of cases had one or more VUS. Conclusion: For almost all genes, the gene-disease relationship could not be validated and lack of evidence precluded variant interpretation. Thus, the incremental diagnostic yield of extending testing was negligible, and would, we propose, be outweighed by problems that arise with a high rate of uninterpretable findings. These findings highlight the need for rigorous, evidence-based selection of genes for clinical test panels.
MeSH term(s)	Adolescent ; Adult ; Aged ; Cardiomyopathy, Hypertrophic/diagnosis ; Cardiomyopathy, Hypertrophic/genetics ; Cardiomyopathy, Hypertrophic/pathology ; Case-Control Studies ; Female ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Sarcomeres ; Whole Genome Sequencing ; Young Adult
Language	English
Publishing date	2018-12-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-018-0375-z
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Article ; Online: Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Nunn, Laurence M / Lopes, Luis R / Syrris, Petros / Murphy, Cian / Plagnol, Vincent / Firman, Eileen / Dalageorgou, Chrysoula / Zorio, Esther / Domingo, Diana / Murday, Victoria / Findlay, Iain / Duncan, Alexis / Carr-White, Gerry / Robert, Leema / Bueser, Teofila / Langman, Caroline / Fynn, Simon P / Goddard, Martin / White, Anne /

Bundgaard, Henning / Ferrero-Miliani, Laura / Wheeldon, Nigel / Suvarna, Simon K / O'Beirne, Aliceson / Lowe, Martin D / McKenna, William J / Elliott, Perry M / Lambiase, Pier D

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

2016 Volume 18, Issue 6, Page(s) 888–896

Abstract: Aims: The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS) probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing has the potential to improve this yield. The primary aim of this study is to examine ... ...

Abstract	Aims: The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS) probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing has the potential to improve this yield. The primary aim of this study is to examine the feasibility and diagnostic utility of targeted exome screening in SADS victims, utilizing familial clinical screening whenever possible. Methods and results: To determine the feasibility and diagnostic yield of targeted exome sequencing deoxyribonucleic acid (DNA) was isolated from 59 SADS victims (mean age 25 years, range 1-51 years). Targeted exome sequencing of 135 genes associated with cardiomyopathies and ion channelopathies was performed on the Illumina HiSeq2000 platform. Non-synonymous, loss-of-function, and splice-site variants with a minor allele frequency <0.02% in the NHLBI exome sequencing project and an internal set of control exomes were prioritized for analysis followed by <0.5% frequency threshold secondary analysis. First-degree relatives were offered clinical screening for inherited cardiac conditions. Seven probands (12%) carried very rare (<0.02%) or novel non-sense candidate mutations and 10 probands (17%) had previously published rare (0.02-0.5%) candidate mutations-a total yield of 29%. Co-segregation fully confirmed two private SCN5A Na channel mutations. Variants of unknown significance were detected in a further 34% of probands. Conclusion: Molecular autopsy using targeted exome sequencing has a relatively low diagnostic yield of very rare potentially disease causing mutations. Candidate pathogenic variants with a higher frequency in control populations are relatively common and should be interpreted with caution.
MeSH term(s)	Adolescent ; Adult ; Autopsy ; Brugada Syndrome/diagnosis ; Brugada Syndrome/genetics ; Case-Control Studies ; Child ; Child, Preschool ; Cohort Studies ; Death, Sudden, Cardiac/prevention & control ; Exome/genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Infant ; Long QT Syndrome/diagnosis ; Long QT Syndrome/genetics ; Male ; Middle Aged ; Mutation ; NAV1.5 Voltage-Gated Sodium Channel/genetics ; Pedigree ; Sequence Analysis, DNA ; United Kingdom ; Young Adult
Chemical Substances	NAV1.5 Voltage-Gated Sodium Channel ; SCN5A protein, human
Language	English
Publishing date	2016-06
Publishing country	England
Document type	Journal Article ; Multicenter Study
ZDB-ID	1449879-0
ISSN	1532-2092 ; 1099-5129
ISSN (online)	1532-2092
ISSN	1099-5129
DOI	10.1093/europace/euv285
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Article ; Online: International External Validation Study of the 2014 European Society of Cardiology Guidelines on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (EVIDENCE-HCM).

O'Mahony, Constantinos / Jichi, Fatima / Ommen, Steve R / Christiaans, Imke / Arbustini, Eloisa / Garcia-Pavia, Pablo / Cecchi, Franco / Olivotto, Iacopo / Kitaoka, Hiroaki / Gotsman, Israel / Carr-White, Gerald / Mogensen, Jens / Antoniades, Loizos / Mohiddin, Saidi A / Maurer, Mathew S / Tang, Hak Chiaw / Geske, Jeffrey B / Siontis, Konstantinos C / Mahmoud, Karim D /

Vermeer, Alexa / Wilde, Arthur / Favalli, Valentina / Guttmann, Oliver P / Gallego-Delgado, Maria / Dominguez, Fernando / Tanini, Ilaria / Kubo, Toru / Keren, Andre / Bueser, Teofila / Waters, Sarah / Issa, Issa F / Malcolmson, James / Burns, Tom / Sekhri, Neha / Hoeger, Christopher W / Omar, Rumana Z / Elliott, Perry M

Circulation

2017 Volume 137, Issue 10, Page(s) 1015–1023

Abstract: Background: Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk of sudden cardiac death (SCD) and require a prophylactic implantable cardioverter defibrillator is challenging. In 2014, the European Society of Cardiology ... ...

Abstract	Background: Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk of sudden cardiac death (SCD) and require a prophylactic implantable cardioverter defibrillator is challenging. In 2014, the European Society of Cardiology proposed a new risk stratification method based on a risk prediction model (HCM Risk-SCD) that estimates the 5-year risk of SCD. The aim was to externally validate the 2014 European Society of Cardiology recommendations in a geographically diverse cohort of patients recruited from the United States, Europe, the Middle East, and Asia. Methods: This was an observational, retrospective, longitudinal cohort study. Results: The cohort consisted of 3703 patients. Seventy three (2%) patients reached the SCD end point within 5 years of follow-up (5-year incidence, 2.4% [95% confidence interval {CI}, 1.9-3.0]). The validation study revealed a calibration slope of 1.02 (95% CI, 0.93-1.12), C-index of 0.70 (95% CI, 0.68-0.72), and D-statistic of 1.17 (95% CI, 1.05-1.29). In a complete case analysis (n= 2147; 44 SCD end points at 5 years), patients with a predicted 5-year risk of <4% (n=1524; 71%) had an observed 5-year SCD incidence of 1.4% (95% CI, 0.8-2.2); patients with a predicted risk of ≥6% (n=297; 14%) had an observed SCD incidence of 8.9% (95% CI, 5.96-13.1) at 5 years. For every 13 (297/23) implantable cardioverter defibrillator implantations in patients with an estimated 5-year SCD risk ≥6%, 1 patient can potentially be saved from SCD. Conclusions: This study confirms that the HCM Risk-SCD model provides accurate prognostic information that can be used to target implantable cardioverter defibrillator therapy in patients at the highest risk of SCD.
MeSH term(s)	Cardiology ; Cardiomyopathy, Hypertrophic/complications ; Cardiomyopathy, Hypertrophic/diagnosis ; Cardiomyopathy, Hypertrophic/epidemiology ; Cohort Studies ; Death, Sudden, Cardiac/etiology ; Death, Sudden, Cardiac/prevention & control ; Defibrillators, Implantable/statistics & numerical data ; Europe/epidemiology ; Follow-Up Studies ; Humans ; Incidence ; Practice Guidelines as Topic ; Prognosis ; Research Design ; Retrospective Studies ; Risk ; Societies, Medical
Language	English
Publishing date	2017-11-30
Publishing country	United States
Document type	Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't ; Validation Studies
ZDB-ID	80099-5
ISSN	1524-4539 ; 0009-7322 ; 0069-4193 ; 0065-8499
ISSN (online)	1524-4539
ISSN	0009-7322 ; 0069-4193 ; 0065-8499
DOI	10.1161/CIRCULATIONAHA.117.030437
Database	MEDical Literature Analysis and Retrieval System OnLINE

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